Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals <i>ACTN2</i> mutation related to hypertrophic/dilated cardiomyopathy and a novel <i>LZTR1</i> variant associated with Noonan syndrome

Abstract

The present study adds further evidence on the pathogenicity of ACTN2: p. Ala119Thr variant in SCD and expands the mutational spectrum of the LZTR1 gene related to Noonan syndrome.